ClinVar Miner

Variants studied for Epilepsy, progressive myoclonic 3

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
8 7 31 16 2 61

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KCTD7 8 7 30 16 2 60
CLN3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 3 28 16 2 50
OMIM 6 0 0 0 0 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Undiagnosed Diseases Network,NIH 0 2 0 0 0 2
IRCCS Fondazione Stella Maris,University of Pisa 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1

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